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Biomedical subjects

P A Siraganian

Publications and source records attributed to P A Siraganian.

5 recordsLinked to original sources

Benign familial hyperphosphatasemia.

Elevated alkaline phosphatase activity in serum suggests bone or liver disease or a neoplasm but can also indicate pregnancy or another benign condition. A family with benign hyperphosphatasemia was studied to elucidate the genetics and enzyme defect. Serum total alkaline phosphatase activity was greater than the population mean in all six family members, and more than 7 SDs above the mean in two of four offspring. Monoclonal antibodies to three alkaline phosphatase isoenzymes, intestinal, placental, and tissue nonspecific (liver/bone/kidney), demonstrated markedly increased intestinal alkaline phosphatase levels (29% to 44% of total) in all family members and significantly elevated liver/bone/kidney activity in the two offspring. Guanidine hydrochloride denaturation of the liver/bone/kidney component showed high alkaline phosphatase activity from liver in both siblings and from bone in one. The mode of inheritance in this family is obscure, but a complex regulation of the products of two different alkaline phosphatase genes seems likely. Steps toward diagnosis are suggested. Early recognition of this benign biochemical abnormality should help to avoid unnecessary diagnostic tests.

Adult↗

Keloids and neoplasms in the Rubinstein-Taybi syndrome.

In a series of 574 individuals with the Rubinstein-Taybi syndrome, 28 had keloids, and 19 had one or more neoplasms. The array of malignant neoplasms does not suggest an etiology or pathogenesis in common. One possible exception is that four cases of leukemia were observed. When the data for malignant and benign neoplasms were combined, at least nine of the 22 could have arisen from developmental errors. The apparent excess of keloid formation indicates overreaction to mild injury, with no known relevance to neoplasia but of potential interest in future studies of scar formation.

Abnormalities, Multiple↗

Familial breast cancer in black Americans.

A family history of breast cancer is a major risk factor in this disease, but current information is based entirely on data concerning white families. Two black American families with apparent excesses of breast cancer were studied. Thus far no specific basis for the excess risk has been identified. Despite limited knowledge, a clinical approach to counseling unaffected women in these families may reduce the probability of their dying from breast cancer and may help them to cope with this difficult problem.

Adult↗